Article
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Birth defects research - 17 Jul 2017
Zhang Rong, Marsch Florian, Kause Franziska, Degenhardt Franziska, Schmiedeke Eeberhard, Märzheuser Stefanie, Hoppe Bernd, Bachour Haitham, Boemers Thomas M, Schäfer Matthias, Spychalski Nicole, Neser Jörg, Leonhardt Johannes, Kosch Ferdinand, Ure Benno, Gómez Barbara, Lacher Martin, Deffaa Oliver J, Palta Markus, Wittekindt Boris, Kleine Katharina, Schmedding Andrea, Grasshoff-Derr Sabine, Ven Amelie van der, Heilmann-Heimbach Stefanie, Zwink Nadine, Jenetzky Ekkehart, Ludwig Michael, Reutter Heiko
Abstract excerpt
BACKGROUND: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients...
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